Article

Unmasking Rare Thalassemia Variants through Whole-Exome Sequencing in Huadu District, China: Clinical Insights

2025-10-17

Abstract excerpt

<title>Abstract</title> <p> <bold>Background/Objectives</bold> : Whole-exome sequencing (WES) enhances the detection of thalassemia-associated variants beyond conventional methods, particularly in high-prevalence regions, facilitating precise genotype-phenotype correlations. This study aimed to establish a model for precision prevention in endemic regions. <bold>Methods</bold> : WES was performed on 21 patien...

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Literature Corpus work: fbdd6851-a4fa-5b00-a508-1608267f8037
DOI: 10.21203/rs.3.rs-7708021/v1

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